Phenotypes associated with this allele

• Allele Symbol: Scn8a^med-J
• Allele Name: motor end plate disease Jackson
• Allele ID: MGI:1856079
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-J/Scn8a^med-J	involves: STOCK Krt71^Ca	MGI:3818068
cx2	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^+	involves: C3HeB/FeJ * C57BL/6J	MGI:6259406
cx3	Scn8a^med-J/Scn8a^med-J Scnm1^tm1.1Mm/Scnm1^tm1.1Mm	involves: C57BL/6 * FVB * SJL * STOCK Krt71^Ca	MGI:3818067
cx4	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J	MGI:2674112
cx5	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J * STOCK Krt71^Ca	MGI:3818069
cx6	Scn8a^med-J/Scn8a^med-J Scnm1^m1R/Scnm1^m1R	involves: C57BL/6 * STOCK Krt71^Ca	MGI:3818070

Genotype
MGI:3818068

hm1

• Allelic Composition: Scn8a^med-J/Scn8a^med-J
• Genetic Background: involves: STOCK Krt71^Ca

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

mortality/aging ( J:141236 )

N • mice exhibit a normal lifespan

behavior/neurological

dystonia ( J:141236 )

• chronic

tremors ( J:141236 )

ataxia ( J:141236 )

• mice exhibit an ataxic gait

abnormal gait ( J:141236 )

• mice exhibit an ataxic gait

muscle

dystonia ( J:141236 )

• chronic

Genotype
MGI:6259406

cx2

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

behavior/neurological

tremors ( J:108906 )

abnormal posture ( J:108906 )

• mice display dystonic postures

paraparesis ( J:108906 )

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108906 )

impaired hearing ( J:108906 )

nervous system

abnormal action potential ( J:108906 )

• abnormal conduction of action potentials throughout the nervous system

abnormal CNS synaptic transmission ( J:108906 )

• absence of spontaneous bursting activity in the dorsal cochlear nucleus

Genotype
MGI:3818067

cx3

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^tm1.1Mm/Scnm1^tm1.1Mm
• Genetic Background: involves: C57BL/6 * FVB * SJL * STOCK Krt71^Ca

mortality/aging

premature death ( J:141236 )

behavior/neurological

hindlimb paralysis ( J:141236 )

• in all mice

cellular

abnormal cell physiology ( J:141236 )

• mice exhibit reduced splicing of the Scn8a^med-J transcript compared to in wild-type mice and Scn8a^med-J Scnm1^s double homozygotes

Genotype
MGI:2674112

cx4

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1^s
• Genetic Background: involves: C57BL/6J

mortality/aging

premature death ( J:79617 )

• do not survive beyond one month of age

behavior/neurological

dystonia ( J:79617 )

ataxia ( J:79617 )

paralysis ( J:79617 )

muscle

dystonia ( J:79617 )

muscular atrophy ( J:79617 )

Genotype
MGI:3818069

cx5

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1^s
• Genetic Background: involves: C57BL/6J * STOCK Krt71^Ca

mortality/aging

premature death ( J:141236 )

• mice survive one month

muscle

muscle weakness ( J:141236 )

• mice exhibit muscle weakness but retain hindlimb function

cellular

abnormal cell physiology ( J:141236 )

• mice exhibit reduced splicing of the Scn8a^med-J transcript compared to in wild-type mice

Genotype
MGI:3818070

cx6

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^m1R/Scnm1^m1R
• Genetic Background: involves: C57BL/6 * STOCK Krt71^Ca

mortality/aging

postnatal lethality ( J:141236 )

• mice do not survive beyond weaning

behavior/neurological

behavior/neurological phenotype ( J:141236 )

N • unlike Scn8a^med-J Scnm1^s double homozygotes, mice do not exhibit hindlimb paralysis